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Prenatal Diagnosis of Fetal Trisomy 5 Mosaicism with Congenital Pulmonary Airway Malformation Type 3: A Case Report.
Bonasoni, Maria Paola; Comitini, Giuseppina; Tonni, Gabriele; Asioli, Silvia; Barbieri, Veronica; Rinaldini, Monia; Marinelli, Maria.
Afiliación
  • Bonasoni MP; Pathology, Azienda Unita Sanitaria Locale-IRCCS Tecnologie Avanzate e Modelli Assistenziali in Oncologia di Reggio Emilia, Italy.
  • Comitini G; Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Tonni G; Obstetrics and Gynecology, Azienda Unità Sanitaria Locale di Reggio Emilia, Reggio Emilia, Italy.
  • Asioli S; Pathology, Azienda Unita Sanitaria Locale della Romagna Forli, Italy.
  • Barbieri V; Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Rinaldini M; Cytogenetics Laboratory, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
  • Marinelli M; Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Fetal Pediatr Pathol ; 41(3): 516-522, 2022 Jun.
Article en En | MEDLINE | ID: mdl-33411590
Background: Trisomy mosaicism of chromosome 5 is uncommon with few cases described. Case report: A 41-year-old woman underwent ultrasound (US) at 16 weeks, which showed oligohydramnios and intrauterine growth restriction (IUGR). Amniocentesis discovered a karyotype of 47,XX,+5/46,XX. US at 19 weeks disclosed IUGR, enlargement of right side of heart, main pulmonary artery dilatation, and a suspected congenital pulmonary airway malformation (CPAM) in the inferior lobe of the left lung. Due to poor fetal prognosis, the parents opted for legal termination of pregnancy. At postmortem, a wide ventricular septal defect and CPAM type 3 were found. Cytogenetic analyses on fetal tissues detected mosaic trisomy 5 in skin, thymus, kidneys and CPAM. Placenta and fetal peripheral blood revealed normal female karyotype. Discussion/conclusion: These results suggest that if a fetus presents normal phenotypic features, mosaicism may be confined to extraembryonic structures, otherwise, in case of malformations, it may be carried by affected organs.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trisomía / Malformación Adenomatoide Quística Congénita del Pulmón Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Pregnancy Idioma: En Revista: Fetal Pediatr Pathol Asunto de la revista: PATOLOGIA / PEDIATRIA Año: 2022 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trisomía / Malformación Adenomatoide Quística Congénita del Pulmón Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Pregnancy Idioma: En Revista: Fetal Pediatr Pathol Asunto de la revista: PATOLOGIA / PEDIATRIA Año: 2022 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido